Tests for Autoimmune Diseases Test Codes 249, 16814, 19946

Total Page:16

File Type:pdf, Size:1020Kb

Tests for Autoimmune Diseases Test Codes 249, 16814, 19946 Tests for Autoimmune Diseases Test Codes 249, 16814, 19946 Frequently Asked Questions Panel components may be ordered separately. Please see the Quest Diagnostics Test Center for ordering information. 1. Q: What are autoimmune diseases? A: “Autoimmune disease” refers to a diverse group of disorders that involve almost every one of the body’s organs and systems. It encompasses diseases of the nervous, gastrointestinal, and endocrine systems, as well as skin and other connective tissues, eyes, blood, and blood vessels. In all of these autoimmune diseases, the underlying problem is “autoimmunity”—the body’s immune system becomes misdirected and attacks the very organs it was designed to protect. 2. Q: Why are autoimmune diseases challenging to diagnose? A: Diagnosis is challenging for several reasons: 1. Patients initially present with nonspecific symptoms such as fatigue, joint and muscle pain, fever, and/or weight change. 2. Symptoms often flare and remit. 3. Patients frequently have more than 1 autoimmune disease. According to a survey by the Autoimmune Diseases Association, it takes up to 4.6 years and nearly 5 doctors for a patient to receive a proper autoimmune disease diagnosis.1 3. Q: How common are autoimmune diseases? A: At least 30 million Americans suffer from 1 or more of the 80 plus autoimmune diseases. On average, autoimmune diseases strike three times more women than men. Certain ones have an even higher female:male ratio. Autoimmune diseases are one of the top 10 leading causes of death among women age 65 and under2 and represent the fourth-largest cause of disability among women in the United States.3 Women’s enhanced immune system increases resistance to infection, but also puts them at greater risk of developing autoimmune disease than men. Autoimmune disease commonly occurs in multiple members of a family, indicating a genetic predisposition. Family members are affected by various autoimmune disorders rather than one specific disorder. 4. Q: What is the first test to be considered for a patient suspected of having an autoimmune disease? A: When evaluating a patient for autoimmune disease, an antinuclear antibody (ANA) test is typically performed first. The immunofluorescence assay (IFA) (test code 249) screens for approximately 150 autoantibodies, which can occur in various autoimmune diseases. The American College of Rheumatology (ACR) recommends IFA as the gold standard method for ANA testing.4 A negative ANA IFA result suggests ANA-associated autoimmune diseases are not present. A positive result suggests the presence of autoimmune disease, and reflexes to titer and pattern. A low ANA titer (1:40 to 1:80) is consistent with preclinical disease or lack of disease. Titers >1:80 are consistent with autoimmune disease. In these cases, the staining pattern helps predict the disease type; however, specific antibody testing can be considered useful if clinically indicated. Frequently Asked Questions 5. Q: What is the significance of ANA patterns? A: The significance of various patterns is shown below. Antibody Pattern Interpretation Nuclear Patterns Nuclear membrane Associated with autoimmune liver disease, including primary biliary (nuclear laminae, rim) cirrhosis and autoimmune hepatitis; also associated with SLE, Sjögren syndrome, and seronegative arthritis Centromere Associated with the CREST syndromea or Raynauda syndrome Homogenous Consistent with presence of antibodies to native DNA, histones, and/or deoxyribonucleoprotein; associated with SLE and drug-induced lupus Nucleolar Suggestive of systemic sclerosis (scleroderma), SLE, Sjögren syndrome, polymyositis, overlap syndromes, or Raynaud phenomenon Proliferating cell nuclear Highly specific for SLE antigen (PCNA) Speckled Suggestive of antibodies to RNP, SS-A, SS-B, Sm, centromere, p95 or p80 coilin; associated with mixed connective tissue disease, SLE, Sjögren syndrome, dermatomyositis, and systemic sclerosis/polymyositis overlap Nuclear dots (1-6 per cell) Consistent with Sjögren syndrome, SLE, systemic sclerosis, polymyositis, and asymptomatic individuals Nuclear dots (6-20 per cell) Consistent with primary biliary cirrhosis, polymyositis/dermatomyositis, and other systemic autoimmune rheumatic diseases Cytoplasmic Patterns Cytoskeletal Associated with autoimmune liver disease (anti-smooth muscle); myasthenia gravis, Crohn disease, and long-term hemodialysis; alcoholic liver disease, rheumatoid arthritis, and psoriasis (anti-keratin) Golgi apparatus Consistent with SLE, Sjögren syndrome, cerebellar disease, and viral infections Lysosomal Unknown clinical significance Mitochondrial Suggestive of antimitochondrial antibody presence and primary biliary cirrhosis Ribosomal Unknown clinical significance; may be associated with neuropsychiatric lupus SLE, systemic lupus erythematosus; RNP antibody, ribonucleoprotein antibody; SS-A, SS-B antibodies, Sjögren syndrome antibodies A and B; and Sm antibody, Smith antibody. a CREST is a syndrome defined by presence of calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia. Note: At Quest Diagnostics each pattern is reported if more than one is observed. Frequently Asked Questions 6. Q: Can I use one patient specimen to both screen and test for specific antibodies? A: Yes, Quest Diagnostics offers test code 16814 (ANA Screen, IFA, Reflex Titer/Pattern and Reflex to Multiplex 11 Ab Cascade). This test begins with an ANA screen using IFA technology. A positive result reflexes to titer and pattern and to a 3-tiered, 11-antibody cascade. The first tier includes chromatin, dsDNA, RNP, Sm, and Sm/RNP antibodies. If all 5 antibodies are negative, testing proceeds to the second tier, which includes Jo-1, Scl-70, SS-A, and SS-B antibodies. If all 4 of these antibodies are negative, testing proceeds to the final tier, which includes centromere B and ribosomal P antibodies. Figure 1 details the cascade and interpretation of specific antibody results. Note that if the ANA IFA result is positive but all 11 specific antibody results are negative, an autoimmune disease may still be present. The disease may be associated with an antibody not tested for in the cascade. Diseases to be considered include rheumatoid arthritis, autoimmune hepatitis, primary biliary cirrhosis, autoimmune thyroiditis, Addison disease, pernicious anemia, autoimmune neuropathies, vasculitis, celiac disease, bullous disease, and others. 7. Q: Can I order specific antibody testing without an ANA (IFA) screen? A: The ANA Multiplex with Reflex to 11 Antibody Cascade (test code 19946) can be used. This test does not include an ANA screen based on IFA technology. This less sensitive, but more specific test uses multiplex bead immunoassay technology. The test includes a 3-tiered, 11-antibody cascade that begins with chromatin, dsDNA, RNP, Sm, and Sm/RNP antibodies. If all 5 antibodies are negative, testing proceeds to the second tier, which includes Jo-1, Scl-70, SS-A, and SS-B antibodies. If all 4 of these antibodies are negative, testing proceeds to the final tier, which includes centromere B and ribosomal P antibodies. A negative result on all 11 antibodies does not rule out autoimmune disease. A disease associated with an antibody not tested in the cascade may be present, especially if the patient has previously tested positive on an ANA IFA screen. Diseases to be considered include rheumatoid arthritis, autoimmune hepatitis, primary biliary cirrhosis, autoimmune thyroiditis, Addison disease, pernicious anemia, autoimmune neuropathies, vasculitis, celiac disease, bullous disease, and others. 8. Q: How predictive are the specific antibodies? What is their sensitivity and specificity in various autoimmune diseases? A: Presence of a specific antibody is highly suggestive for the associated autoimmune disease. However, these antibodies are not specific for a particular disease; thus, results need to be interpreted in context of the clinical information and the following antibody prevalence. Prevalence of Tier 1 Antibodies5-8 • Double-stranded DNA (dsDNA) antibodies are present in 57% to 62% of systemic lupus erythematosus (SLE) cases, 10% to 43% of polymyositis, 11% to 20% of Sjögren syndrome, 8% of systemic sclerosis (scleroderma), and 0% to 8% of mixed connective tissue disease (MCTD). • Chromatin antibody is present in >80% of MCTD cases, 37% to 73% of SLE, 14% of systemic sclerosis, 12% of Sjögren syndrome, and 8% of polymyositis. • Ribonucleoprotein (RNP) antibodies target RNP A and/or RNP 68kD proteins; antibodies to one or both are present in >80% of MCTD cases, 22% to 48% of SLE, 14% of systemic sclerosis, 12% of Sjögren syndrome, and 8% of polymyositis. Frequently Asked Questions Figure 1. Use of ANA (IFA) and Specific Antibody Testing Cascade (Test Code 16814) for the Diagnosis of Rheumatic Disease ANA Screen (IFA) Negative Positive Tier 1 Rheumatic Titer and Pattern disease highly Chromatin, dsDNA, RNP, Sm, and Sm/RNP antibodies unlikely See Question 5 for pattern interpretation Negative Positive Tier 2 Antibody Systemic Lupus Mixed Connective Test Erythematosus Tissue Disease Jo-1, Scl-70, SS-A, and SS-B antibodies dsDNA + (high specificity) – Chromatin + (high sensitivity) – Sm + (high specificity) – Negative Positive Sm/RNP + + (high titer) RNP + + (high titer) Tier 3 Centromere B and Antibody Sjögren Systemic Polymyositis ribosomal P antibodies Test Syndrome Scleroderma SS-A + – – SS-B + – – Negative Positive Scl-70 – + – Jo-1 – – + No evidence of rheumatic disease shown Antibody CREST Neurologic by analytes
Recommended publications
  • Lactoferrin and Its Detection Methods: a Review
    nutrients Review Lactoferrin and Its Detection Methods: A Review Yingqi Zhang, Chao Lu and Jin Zhang * Department of Chemical and Biochemical Engineering, University of Western Ontario, London, ON N6A 5B9, Canada; [email protected] (Y.Z.); [email protected] (C.L.) * Correspondence: [email protected] Abstract: Lactoferrin (LF) is one of the major functional proteins in maintaining human health due to its antioxidant, antibacterial, antiviral, and anti-inflammatory activities. Abnormal levels of LF in the human body are related to some serious diseases, such as inflammatory bowel disease, Alzheimer’s disease and dry eye disease. Recent studies indicate that LF can be used as a biomarker for diagnosis of these diseases. Many methods have been developed to detect the level of LF. In this review, the biofunctions of LF and its potential to work as a biomarker are introduced. In addition, the current methods of detecting lactoferrin have been presented and discussed. We hope that this review will inspire efforts in the development of new sensing systems for LF detection. Keywords: lactoferrin; biomarkers; immunoassay; instrumental analysis; sensor 1. Introduction Lactoferrin (known as lactotransferrin, LF), with a molecular weight of about 80 kDa, is a functional glycoprotein, which contains about 690 amino acid residues. It was first isolated from bovine milk by Sorensen in 1939 and was first isolated from human milk by Citation: Zhang, Y.; Lu, C.; Zhang, J. Johanson in 1960 [1,2]. The three-dimensional structure of LF has been unveiled by high Lactoferrin and Its Detection resolution X-ray crystallographic analysis, and it consists of two homologous globular lobes Methods: A Review.
    [Show full text]
  • Primary Sjogren Syndrome: Focus on Innate Immune Cells and Inflammation
    Review Primary Sjogren Syndrome: Focus on Innate Immune Cells and Inflammation Chiara Rizzo 1, Giulia Grasso 1, Giulia Maria Destro Castaniti 1, Francesco Ciccia 2 and Giuliana Guggino 1,* 1 Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, Rheumatology Section, University of Palermo, Piazza delle Cliniche 2, 90110 Palermo, Italy; [email protected] (C.R.); [email protected] (G.G.); [email protected] (G.M.D.C.) 2 Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Via L. De Crecchio 7, 80138 Naples, Italy; [email protected] * Correspondence: [email protected]; Tel.: +39-091-6552260 Received: 30 April 2020; Accepted: 29 May 2020; Published: 3 June 2020 Abstract: Primary Sjogren Syndrome (pSS) is a complex, multifactorial rheumatic disease that mainly targets salivary and lacrimal glands, inducing epithelitis. The cause behind the autoimmunity outbreak in pSS is still elusive; however, it seems related to an aberrant reaction to exogenous triggers such as viruses, combined with individual genetic pre-disposition. For a long time, autoantibodies were considered as the hallmarks of this disease; however, more recently the complex interplay between innate and adaptive immunity as well as the consequent inflammatory process have emerged as the main mechanisms of pSS pathogenesis. The present review will focus on innate cells and on the principal mechanisms of inflammation connected. In the first part, an overview of innate cells involved in pSS pathogenesis is provided, stressing in particular the role of Innate Lymphoid Cells (ILCs). Subsequently we have highlighted the main inflammatory pathways, including intra- and extra-cellular players.
    [Show full text]
  • Vaccination and Autoimmune Disease: What Is the Evidence?
    REVIEW Review Vaccination and autoimmune disease: what is the evidence? David C Wraith, Michel Goldman, Paul-Henri Lambert As many as one in 20 people in Europe and North America have some form of autoimmune disease. These diseases arise in genetically predisposed individuals but require an environmental trigger. Of the many potential environmental factors, infections are the most likely cause. Microbial antigens can induce cross-reactive immune responses against self-antigens, whereas infections can non-specifically enhance their presentation to the immune system. The immune system uses fail-safe mechanisms to suppress infection-associated tissue damage and thus limits autoimmune responses. The association between infection and autoimmune disease has, however, stimulated a debate as to whether such diseases might also be triggered by vaccines. Indeed there are numerous claims and counter claims relating to such a risk. Here we review the mechanisms involved in the induction of autoimmunity and assess the implications for vaccination in human beings. Autoimmune diseases affect about 5% of individuals in Autoimmune disease and infection developed countries.1 Although the prevalence of most Human beings have a highly complex immune system autoimmune diseases is quite low, their individual that evolved from the fairly simple system found in incidence has greatly increased over the past few years, as invertebrates. The so-called innate invertebrate immune documented for type 1 diabetes2,3 and multiple sclerosis.4 system responds non-specifically to infection, does not Several autoimmune disorders arise in individuals in age- involve lymphocytes, and hence does not display groups that are often selected as targets for vaccination memory.
    [Show full text]
  • Autoimmunity and Organ Damage in Systemic Lupus Erythematosus
    REVIEW ARTICLE https://doi.org/10.1038/s41590-020-0677-6 Autoimmunity and organ damage in systemic lupus erythematosus George C. Tsokos ✉ Impressive progress has been made over the last several years toward understanding how almost every aspect of the immune sys- tem contributes to the expression of systemic autoimmunity. In parallel, studies have shed light on the mechanisms that contribute to organ inflammation and damage. New approaches that address the complicated interaction between genetic variants, epigen- etic processes, sex and the environment promise to enlighten the multitude of pathways that lead to what is clinically defined as systemic lupus erythematosus. It is expected that each patient owns a unique ‘interactome’, which will dictate specific treatment. t took almost 100 years to realize that lupus erythematosus, strongly to the heterogeneity of the disease. Several genes linked to which was initially thought to be a skin entity, is a systemic the immune response are regulated through long-distance chroma- Idisease that spares no organ and that an aberrant autoimmune tin interactions10,11. Studies addressing long-distance interactions response is involved in its pathogenesis. The involvement of vital between gene variants in SLE are still missing, but, with the advent organs and tissues such as the brain, blood and the kidney in most of new technologies, such studies will emerge. patients, the vast majority of whom are women of childbearing age, Better understanding of the epigenome is needed to under- impels efforts to develop diagnostic tools and effective therapeu- stand how it supplements the genetic contribution to the dis- tics. The prevalence ranges from 20 to 150 cases per 100,000 peo- ease.
    [Show full text]
  • Pathophysiology of Immune Thrombocytopenic Purpura: a Bird's-Eye View
    Egypt J Pediatr Allergy Immunol 2014;12(2):49-61. Review article Pathophysiology of immune thrombocytopenic purpura: a bird's-eye view. Amira Abdel Moneam Adly Pediatrics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt ABSTRACT and B lymphocytes (including T-helper, T- Immune thrombocytopenic purpura (ITP) is a cytotoxic, and T-regulatory lymphocytes) 6. common autoimmune disorder resulting in isolated The triggering event for ITP is unknown7, but thrombocytopenia. It is a bleeding disorder continued research is providing new insights into characterized by low platelet counts due to decreased the underlying immunopathogenic processes as well platelet production as well as increased platelet as the cellular and molecular mechanisms involved destruction by autoimmune mechanisms. ITP can in megakaryocytopoiesis and platelet turnover. present either alone (primary) or in the setting of other Although historically ITP-associated thrombo- conditions (secondary) such as infections or altered cytopenia was attributed solely to increased rates of immune states. ITP is associated with a loss of destruction of antibody- coated platelets, it has tolerance to platelet antigens and a phenotype of become evident that suboptimal platelet production accelerated platelet destruction and impaired platelet also plays a role 8. production. Although the etiology of ITP remains Bleeding is due to decreased platelet production unknown, complex dysregulation of the immune as well as accelerated platelet destruction mediated system is observed in ITP patients. Antiplatelet in part by autoantibody-based destruction antibodies mediate accelerated clearance from the mechanisms9. Most autoantibodies in ITP are circulation in large part via the reticuloendothelial isotype switched and harbor somatic mutations10, (monocytic phagocytic) system.
    [Show full text]
  • B Cell Activation and Escape of Tolerance Checkpoints: Recent Insights from Studying Autoreactive B Cells
    cells Review B Cell Activation and Escape of Tolerance Checkpoints: Recent Insights from Studying Autoreactive B Cells Carlo G. Bonasia 1 , Wayel H. Abdulahad 1,2 , Abraham Rutgers 1, Peter Heeringa 2 and Nicolaas A. Bos 1,* 1 Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, University of Groningen, 9713 Groningen, GZ, The Netherlands; [email protected] (C.G.B.); [email protected] (W.H.A.); [email protected] (A.R.) 2 Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, 9713 Groningen, GZ, The Netherlands; [email protected] * Correspondence: [email protected] Abstract: Autoreactive B cells are key drivers of pathogenic processes in autoimmune diseases by the production of autoantibodies, secretion of cytokines, and presentation of autoantigens to T cells. However, the mechanisms that underlie the development of autoreactive B cells are not well understood. Here, we review recent studies leveraging novel techniques to identify and characterize (auto)antigen-specific B cells. The insights gained from such studies pertaining to the mechanisms involved in the escape of tolerance checkpoints and the activation of autoreactive B cells are discussed. Citation: Bonasia, C.G.; Abdulahad, W.H.; Rutgers, A.; Heeringa, P.; Bos, In addition, we briefly highlight potential therapeutic strategies to target and eliminate autoreactive N.A. B Cell Activation and Escape of B cells in autoimmune diseases. Tolerance Checkpoints: Recent Insights from Studying Autoreactive Keywords: autoimmune diseases; B cells; autoreactive B cells; tolerance B Cells. Cells 2021, 10, 1190. https:// doi.org/10.3390/cells10051190 Academic Editor: Juan Pablo de 1.
    [Show full text]
  • Mechanisms Governing Anaphylaxis: Inflammatory Cells, Mediators
    International Journal of Molecular Sciences Review Mechanisms Governing Anaphylaxis: Inflammatory Cells, Mediators, Endothelial Gap Junctions and Beyond Samantha Minh Thy Nguyen 1, Chase Preston Rupprecht 2, Aaisha Haque 3, Debendra Pattanaik 4, Joseph Yusin 5 and Guha Krishnaswamy 1,3,* 1 Department of Medicine, Wake Forest School of Medicine, Winston-Salem, NC 27106, USA; [email protected] 2 The Rowan School of Osteopathic Medicine, Stratford, NJ 08084, USA; [email protected] 3 The Bill Hefner VA Medical Center, Salisbury, NC 27106, USA; [email protected] 4 Division of Allergy and Immunology, UT Memphis College of Medicine, Memphis, TN 38103, USA; [email protected] 5 The Division of Allergy and Immunology, Greater Los Angeles VA Medical Center, Los Angeles, CA 90011, USA; [email protected] * Correspondence: [email protected] Abstract: Anaphylaxis is a severe, acute, life-threatening multisystem allergic reaction resulting from the release of a plethora of mediators from mast cells culminating in serious respiratory, cardiovascular and mucocutaneous manifestations that can be fatal. Medications, foods, latex, exercise, hormones (progesterone), and clonal mast cell disorders may be responsible. More recently, novel syndromes such as delayed reactions to red meat and hereditary alpha tryptasemia have been described. Anaphylaxis manifests as sudden onset urticaria, pruritus, flushing, erythema, Citation: Nguyen, S.M.T.; Rupprecht, angioedema (lips, tongue, airways, periphery), myocardial dysfunction (hypovolemia, distributive
    [Show full text]
  • Monoclonal Antibody Playbook
    Federal Response to COVID-19: Monoclonal Antibody Clinical Implementation Guide Outpatient administration guide for healthcare providers 2 SEPTEMBER 2021 1 Introduction to COVID-19 Monoclonal Antibody Therapy 2 Overview of Emergency Use Authorizations 3 Site and Patient Logistics Site preparation Patient pathways to monoclonal administration 4 Team Roles and Responsibilities Leadership Administrative Clinical Table of 5 Monoclonal Antibody Indications and Administration Indications Contents Preparation Administration Response to adverse events 6 Supplies and Resources Infrastructure Administrative Patient Intake Administration 7 Examples: Sites of Administration and Staffing Patterns 8 Additional Resources 1 1. Introduction to Monoclonal Therapy 2 As of 08/13/21 Summary of COVID-19 Therapeutics 1 • No Illness . Health, no infections • Exposed Asymptomatic Infected . Scope of this Implementation Guide . Not hospitalized, no limitations . Monoclonal Antibodies for post-exposure prophylaxis (Casirivimab + Imdevimab (RGN)) – EUA Issued. • Early Symptomatic . Scope of this Implementation Guide . Not hospitalized, with limitations . Monoclonal Antibodies for treatment (EUA issued): Bamlanivimab + Etesevimab1 (Lilly) Casirivimab + Imdevimab (RGN) Sotrovimab (GSK/Vir) • Hospital Adminission. Treated with Remdesivir (FDA Approved) or Tocilizumab (EUA Issued) . Hospitalized, no acute medical problems . Hospitalized, not on oxygen . Hospitlaized, on oxygen • ICU Admission . Hospitalized, high flow oxygen, non-invasive ventilation
    [Show full text]
  • B Cell Checkpoints in Autoimmune Rheumatic Diseases
    REVIEWS B cell checkpoints in autoimmune rheumatic diseases Samuel J. S. Rubin1,2,3, Michelle S. Bloom1,2,3 and William H. Robinson1,2,3* Abstract | B cells have important functions in the pathogenesis of autoimmune diseases, including autoimmune rheumatic diseases. In addition to producing autoantibodies, B cells contribute to autoimmunity by serving as professional antigen- presenting cells (APCs), producing cytokines, and through additional mechanisms. B cell activation and effector functions are regulated by immune checkpoints, including both activating and inhibitory checkpoint receptors that contribute to the regulation of B cell tolerance, activation, antigen presentation, T cell help, class switching, antibody production and cytokine production. The various activating checkpoint receptors include B cell activating receptors that engage with cognate receptors on T cells or other cells, as well as Toll-like receptors that can provide dual stimulation to B cells via co- engagement with the B cell receptor. Furthermore, various inhibitory checkpoint receptors, including B cell inhibitory receptors, have important functions in regulating B cell development, activation and effector functions. Therapeutically targeting B cell checkpoints represents a promising strategy for the treatment of a variety of autoimmune rheumatic diseases. Antibody- dependent B cells are multifunctional lymphocytes that contribute that serve as precursors to and thereby give rise to acti- cell- mediated cytotoxicity to the pathogenesis of autoimmune diseases
    [Show full text]
  • Conditions Related to Inflammatory Arthritis
    Conditions Related to Inflammatory Arthritis There are many conditions related to inflammatory arthritis. Some exhibit symptoms similar to those of inflammatory arthritis, some are autoimmune disorders that result from inflammatory arthritis, and some occur in conjunction with inflammatory arthritis. Related conditions are listed for information purposes only. • Adhesive capsulitis – also known as “frozen shoulder,” the connective tissue surrounding the joint becomes stiff and inflamed causing extreme pain and greatly restricting movement. • Adult onset Still’s disease – a form of arthritis characterized by high spiking fevers and a salmon- colored rash. Still’s disease is more common in children. • Caplan’s syndrome – an inflammation and scarring of the lungs in people with rheumatoid arthritis who have exposure to coal dust, as in a mine. • Celiac disease – an autoimmune disorder of the small intestine that causes malabsorption of nutrients and can eventually cause osteopenia or osteoporosis. • Dermatomyositis – a connective tissue disease characterized by inflammation of the muscles and the skin. The condition is believed to be caused either by viral infection or an autoimmune reaction. • Diabetic finger sclerosis – a complication of diabetes, causing a hardening of the skin and connective tissue in the fingers, thus causing stiffness. • Duchenne muscular dystrophy – one of the most prevalent types of muscular dystrophy, characterized by rapid muscle degeneration. • Dupuytren’s contracture – an abnormal thickening of tissues in the palm and fingers that can cause the fingers to curl. • Eosinophilic fasciitis (Shulman’s syndrome) – a condition in which the muscle tissue underneath the skin becomes swollen and thick. People with eosinophilic fasciitis have a buildup of eosinophils—a type of white blood cell—in the affected tissue.
    [Show full text]
  • African Americans and Lupus
    African Americans QUICK GUIDE and Lupus 1 Facts about lupus n People of all races and ethnic groups can develop lupus. n Women develop lupus much more often than men: nine of every 10 It is not people with lupus are women. Children can develop lupus, too. known why n Lupus is three times more common in African American women than lupus is more in Caucasian women. common n As many as 1 in 250 African American women will develop lupus. in African Americans. n Lupus is more common, occurs at a younger age, and is more severe in African Americans. Some scientists n It is not known why lupus is more common in African Americans. Some scientists think that it is related to genes, but we know that think that it hormones and environmental factors play a role in who develops is related to lupus. There is a lot of research being done in this area, so contact the genes, but LFA for the most up-to-date research information, or to volunteer for we know that some of these important research studies. hormones and environmental What is lupus? factors play 2 n Lupus is a chronic autoimmune disease that can damage any part of a role in who the body (skin, joints and/or organs inside the body). Chronic means develops that the signs and symptoms tend to persist longer than six weeks lupus. and often for many years. With good medical care, most people with lupus can lead a full life. n With lupus, something goes wrong with your immune system, which is the part of the body that fights off viruses, bacteria, and germs (“foreign invaders,” like the flu).
    [Show full text]
  • Autoantibody Development Under Treatment with Immune-Checkpoint Inhibitors Emma C
    Published OnlineFirst November 13, 2018; DOI: 10.1158/2326-6066.CIR-18-0245 Cancer Immunology Miniature Cancer Immunology Research Autoantibody Development under Treatment with Immune-Checkpoint Inhibitors Emma C. de Moel1, Elisa A. Rozeman2, Ellen H. Kapiteijn3, Els M.E. Verdegaal3, Annette Grummels4,JaapA.Bakker4, Tom W.J. Huizinga1, John B. Haanen2,3, Rene E.M. Toes1, and Diane van der Woude1 Abstract Immune-checkpoint inhibitors (ICIs) activate the and any irAEs [OR, 2.92; 95% confidence interval (CI) immune system to assault cancer cells in a manner that is 0.85–10.01]. Patients with antithyroid antibodies after ipi- not antigen specific. We hypothesized that tolerance may limumab had significantly more thyroid dysfunction under also be broken to autoantigens, resulting in autoantibody subsequent anti–PD-1 therapy: 7/11 (54.6%) patients with formation, which could be associated with immune-related antithyroid antibodies after ipilimumab developed thyroid adverse events (irAEs) and antitumor efficacy. Twenty-three dysfunction under anti–PD1 versus 7/49 (14.3%) patients common clinical autoantibodies in pre- and posttreatment without antibodies (OR, 9.96; 95% CI, 1.94–51.1). Patients sera from 133 ipilimumab-treated melanoma patients were who developed autoantibodies showed a trend for better determined, and their development linked to the occurrence survival (HR for all-cause death: 0.66; 95% CI, 0.34–1.26) of irAEs, best overall response, and survival. Autoantibodies and therapy response (OR, 2.64; 95% CI, 0.85–8.16). We developed in 19.2% (19/99) of patients who were autoan- conclude that autoantibodies develop under ipilimumab tibody-negative pretreatment.
    [Show full text]